NM_020975.6(RET):c.938G>A (p.Arg313Gln) AND Multiple endocrine neoplasia, type 2a
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Apr 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000662693.10
Allele description [Variation Report for NM_020975.6(RET):c.938G>A (p.Arg313Gln)]
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
Condition(s)
- Name:
- Multiple endocrine neoplasia, type 2a (MEN2A)
- Synonyms:
- MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; Sipple syndrome; MEN 2A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008234; MeSH: D018813; MedGen: C0025268; Orphanet: 653; OMIM: 171400
Assertion and evidence details
Last Updated: Apr 15, 2024